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Daniel Dvorkin writes "When I first started studying bioinformatics almost fifteen years ago (!) what drew me to the field was the promise that we might soon be able to provide effective, personalized treatments for a wide variety of diseases. There have been some successes along the way, like genetic tests for warfarin dosage, but for the most part our gains in understanding of basic biology haven't been matched by clinical advances. Now it looks like that is at long last about to change, and it's about time.

Too many people suffer and die from too many diseases that we more or less understand, but can't effectively treat. I hated it when I worked in hands-on patient care, and I hate it now in the lab. We are, finally, getting there."

Healthy long lives are a result of the combination of active lifestyles, good diet and the ability to remove sickness with the least amount of permanent damage. You can eat a genetically pure diet with perfect amounts of nutrients and still end up getting skin cancer. Medicine should not be your first stop to trying to be healthy but at the same time, It's necessary.

Tell that to Winston Churchill. I think genetics probably explains at least as much of the variance as lifestyle. That said, folks should have a look at the promises made by the first generation of companies that cashed in on the Human Genome Project and compare them to Venter's promises now.

even if the only explanation of the only case that we have is 'he got lucky' that is still a deviation from 'lifestyle explains all' approach.Btw: it may just be that our lifestyle or parts of it are affected by genetics and/or stuff in the middle like all this bacteria that live with us (in our gut etc). Life is not that easy as some morons like to see it be.

Actually, around 50/50 is as good a breakdown of the normal variance as any, given the standard error of our current measures. (And as with any such, that's dependent on the distribution of both in the population; obviously, looking at the breakdown of the variance in schizoid alcoholics would give you a different result).For a given individual, of course, the ability of change mortality/morbidity is entirely due to environment/lifestyle.

You've got to admit, it's a little bit like having Sonny Bono endorse a set of skis. Or Jim Fixx writing a blurb about how running prevents heart disease. While it may be true, it's probably not the best marketing strategy.

The article cited dosing for Wafarin/Coumadin as a motivation for genetic research -- ironically ignoring it is not needed at all with better nutrition (in probably almost every case, so talk to an informed medical practicioner etc..). The link above is from something Dr. Joel Fuhrman wrote in 2004 (just to show how people searching for a magic bullet ignore the obvious). From there:"Coumadin, Vitamin K, and a

Imagine a world free of public health. Imagine a world where the free asshole thinks that when the public health authority demands you take a vaccine, your liberty is being encroached upon. So imagine a world where no public health authority exists. Imagine a world where another free, unvaccinated asshole sneezes at your face, and imagine that in that free world, you simply died, because you were all free to do as you like, such as deciding not to spend your money on vaccination. Except, you're an ignorant

It is my understanding, that FDA's current stance is that all such person-specific treatments/medicines must be individually approved... And, because the approval process is so horrendously difficult and expensive, few would be willing (nay, able) to do it. Companies do it for mass-market drugs, but for individually-tailored mixtures — where the expected market is numbered in mere scores or, at best, hundreds of people — it just makes no sense...

There is already some flexibility on that front. Cancer immunotherapies like sipuleucel-T (Provenge, approved in 2010) are unique to each patient.

"Some flexibility" my sore back... Life-saving medicine is still denied patients [myfoxdc.com], because of the FDA's approval cycle. And the additional obscenity of it all, it that the (would-be) manufacturer of the drug is portrayed as the villain...

One the one hand that's irrelevant to the topic of the thread (approval hurdles for individualized therapies. On the other hand brincidofovir has yet to succeed in phase III trials' it has also failed a phase II (efficacy) trial, so calling it a life saving drug is a bit premature. On a third hand why are you saying this is about the FDA approval cycle and not about ability to quickly scale up production of the drug to support both a Phase III trial and compassionate use, or the difficulty handing out the d

The clinical trials framework that's evolved over the decades isn't really equipped to deal with personalized medicine, but that's starting to change. Where I work [altituderesearch.org], we're starting to understand the genomic basis of altitude sickness and putting together treatment trials on that basis. This is an area where the potential market is pretty large, of course, and for rare diseases that affect small numbers of people it's going to be harder, but if we can develop a generally accepted body of protocols for individualized trials then it should be possible to apply this to smaller groups as time goes by.

Genomic medicine can be as simple as having your genome sequenced and interpreted by someone who knows what they're doing. Healthy people usually have several genetic polymorphisms or mutations, only some of which are significant, and sequencing can help you learn which genetic findings are significant health risks, and which are harmless. What you're talking about is gene therapy, which is a lot more involved.

How many diseases have cheap preventable causes? ManyHow many cheap preventable causes are the medical "science" industry interested in finding? ZeroWhat is the likelihood that insurance companies will want to use genetics to exclude benefits? Very highHow long time will it take for new research to enter into medical practice? As long time as it will take for the practitioner to retire.Genetics: Too much knowledge in the wrong hands is a bad thing.

Pharmaceutical companies justify their prices and patents by saying that they're performing a public service. No pharmaceutical company needed an fscking patent to develop, test, and sell Viagra, even though they did get those patents. They say they need patents and tax loop holes to develop expensive drugs with small markets and low profit margins.

Pharmaceutical companies justify their prices and patents by saying that they're performing a public service. No pharmaceutical company needed an fscking patent to develop, test, and sell Viagra, even though they did get those patents. They say they need patents and tax loop holes to develop expensive drugs with small markets and low profit margins.

Most genomic science-based drug development is spearheaded by the NIH, universities, and other non-profit centers. Although university labs suck at this because the moment a researcher makes a discovery, he immediately leaves the school to form his own for-profit lab and chase big money. Then some large company buys his company (smelling a publicly financed science windfall). Then, invariably, the research is left to wither on the vine because the company spends 99% of its time chasing weight loss, diabetes, depression, etc. And the CEOs don't care about this ridiculous cycle because as long as they keep buying up small labs at a reasonable pace, they reap asset gains in the stock market because investors equate these deals with progress.

No biotech or pharma would receive funding from investors to develop drugs without patents to protect themselves. Hate it or hate it, Wall street calls the tune. Companies spent up to $12B per successful drug approval in 2012.

Last year, about a third of the drugs approved were for orphan diseases (small markets). Most drugs last year were for cancer, but there was also two new treatments for Hep C, one of which will be a cure for many patients. Here's the list:

If universities are going to develop drugs they will essentially have to be reconfigured as for profit pharmas to get the job done. Is that really what you want?

I agree with everything you said but this point. There is no reason the NIH couldn't fund drug development (as opposed to drug basic research - which is what they currently fund for the most part). However, it would be very expensive - there is no reason to think that it won't cost them the $12B/drug industry is spending at the moment (on top of whatever they're already spending on research for those drugs).

The main benefit of having the NIH do it would be that it gets rid of the model where the patient p

The CRO (contract research organization; research without an ownership stake) model is already a big part of pharma and biotech. The NIH has started translational medicine programs to get things through preclinical trials, but is still planning on handing off to pharmas for the heavy lifting.
I think a big problem a public system would have to solve is going from having the wrong cooks (Wall Street) to having too many cooks spoiling the broth. While occasionally something stellar comes along, a lot of the

Agree on all. The one advantage of the private model is that there is at least some correlation between medical need and potential dollars to be made. An influential senator might end up having a billion dollars spent on some rare condition that somebody he cares about happens to have, and no private pharma company would do that.

The other advantage with the private model is that at least there is competition. Nobody blesses one particular research group and says that they're the only ones allowed to work

What is the likelihood that insurance companies will want to use genetics to exclude benefits? Very high

And very illegal. Has been for years.

Indeed, ACA also made any exclusion of benefits for pre-existing conditions illegal just recently, mandating universal coverage instead (though in a fashion that will probably cause the law to fail unless the tax penalty is significantly raised). I think that this was going to be necessary one way or another, as simply banning exclusion on the basis of genetic testing was not a viable long-term solution.

If you ban exclusion on the basis of any kind of knowledge (including genetic testing), then it means th

You hit on some of the reasons it would be difficult to replace the current business model for pharma with an NIH/academia model. I think there are a lot more perverse incentives in the Pharma/Wall Street model than the public one, but the public model would present different difficulties. For starters, we'd replace a system that chases the most profitable drugs with one that absolutely positively refuses to fund contraceptive development (thanks Congress). The NIH has been emphasizing translational medicin

Fear not. The most cost effective model if the one based on general practice family medicine. It achieves an 85% resolution rate, with the other 15% of patients being referred to secondary and tertiary health centers. That is the most cost-effective model in the world and even private companies are slowly gearing towards that. All large effective public health systems in the world work like that. Slowly but surely the US will move towards something more like the British or Canadian systems (to give examples

People need to maintain the distinction in their head from gene finding (which still goes on and is one of the subjects of TFA) and clinical care. The impact of genomic medicine on clinical care is still limited and is likely to remain so for the forseeable future because of what genomic medicine is currently good at predicting.

There will be some benefits in selection of oncology protocols in the short term, but knowing cancer genomics does not actually lead to new chemotherapeutic agents except in the long term (even if a drug target is discovered today, if there is no currently approved drug on the market it could take 10-30 years to develop a drug targeting a new class of mutation).

For most other adult disease, the application will be limited to relatively rare outliers like the limb-girdle disease highlighted in the article. Genomic medicine isn't going to change the fact that huge swaths of patients need to take statins, for example. In fact, the 'success' submitter posits (Warfarin) is actually a bust. The actual benefits from pharmacogenetic testing for Warfarin metabolism are swamped by all the other factors which affect Warfarin metabolism (eg diet and other meds). As for Alzheimer's which TFA also mentions, they're still at the stage of recruiting their 40k subjects to sequence at $1000 a pop. The analysis will take thousands of man-hours just to generate some new hypotheses about Alzheimer's which will, in turn, take 10-30 years to lead to new therapeutics (if we're lucky).

The one area where whole exome sequencing and related technologies are likely to change care in a meaningful way is pediatrics and fetal medicine where there are tons of rare, fatal things due to rare point mutations. In these cases, early molecular diagnosis would reduce the diagnostic odyssey and allow early discussion of the goals of care.

The actual benefits from pharmacogenetic testing for Warfarin metabolism are swamped by all the other factors which affect Warfarin metabolism (eg diet and other meds).

The FDA disagrees, and so does the evidence [onlinejacc.org]. And there are a whole lot of areas [nih.gov] where pharmacogenetics is starting to have an impact on treatment. In any case, pharmacogenetics is a subset of pharmacogenomics; for example, as I mentioned in another comment [slashdot.org], the lab where I work is working on expression-based tests for prediction of altitude sickness and setting up drug trials.

as someone working on front line seeing patients as well as doing genetics, genomic medicine remain a niche field and will remain so. most patients cant even get the basics right and you are talking about tweaking drug dosing by a little based on a polymorphism.

Too many people suffer and die from too many diseases that we more or less understand, but can't effectively treat.

Yes, this is what classical Greek rhetoric describes as a regressive mirage: the more you learn, the worse it gets, no matter how diseases you cure along the way.

Here's the amazing thing. Understanding tends to outpace effective intervention. Any snooker player can tell you which ball on the table he'd really like to move next. It's rarely the ball he's presently shooting at. In Genomics, w

There have been some successes along the way, like genetic tests for warfarin dosage, but for the most part our gains in understanding of basic biology haven't been matched by clinical advances.

If you're spending thousands of dollars for genetic testing for a $4 a month drug like warfarin, you're doing it way wrong. It's like the proverbial million dollar cure for the common cold. You could either use one of the newer warfarin alternatives with more consistent pharmacokinetic profiles at a higher price or use the old tried-and-true trial and error dosing.

Either way, you're still doing weekly to monthly lab testing for warfarin dosing. And your warfarin effectiveness (or bleeding risk) is still going to be thrown way off if you vary your diet significantly or start new medications.

As we know, science has a lot more to do with the sociology of research than we like to think (say hello to Alan Sokal). Bioinformatics has fallen short of its lofty initial goals because it became a prime example of what nefarious effects the struggle for publication can cause, and also of the alienation of a whole field of scientists by another field of...scientists (?)

The failures of Bioinformatics have to do with it becoming a gold mine for publication-hungry CS PhDs who - if you're familiar with some o